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Gene: CEP290 & Disease: NPH, 2483 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1333	CEP290	c.5668G>T	p.Gly1890Ter (p.G1890X)	NM_025114.4 M	SNV	P	17 +	16
1339	CEP290	c.4723A>T	p.Lys1575Ter (p.K1575X)	NM_025114.4 M	SNV	P	11 +	15
1337	CEP290	c.2991+1655A>G	--	NM_025114.4 M	SNV	P	13 +	11
217624	CEP290	c.164_167delCTCA	--	NM_025114.4 M	Del	P	10 +	11
217624	CEP290	c.164_167del	p.Thr55fs (p.T55fs)	NM_025114.4 M	Del	P	10 +	11
572652	CEP290	c.4962_4963delAA	--	NM_025114.4 M	Del	P	10 +	11
572652	CEP290	c.4962_4963del	p.Glu1656fs (p.E1656fs)	NM_025114.4 M	Del	P	10 +	11
56739	CEP290	c.5493delA	--	NM_025114.4 M	Del	P	12 +	11
56739	CEP290	c.5493del	p.Ala1832fs (p.A1832fs)	NM_025114.4 M	Del	P	12 +	11
197044	CEP290	c.5182G>T	p.Glu1728Ter (p.E1728X)	NM_025114.4 M	SNV	P	7 +	10
56733	CEP290	c.1984C>T	p.Gln662Ter (p.Q662X)	NM_025114.4 M	SNV	P	12 +	10
99857	CEP290	c.4966G>T	p.Glu1656Ter (p.E1656X)	NM_025114.4 M	SNV	P	9 +	9
217635	CEP290	c.4882C>T	p.Gln1628Ter (p.Q1628X)	NM_025114.4 M	SNV	P	12 +	9
156377	CEP290	c.1711+1G>A	--	NM_025114.4 M	SNV	P	9 +	8
1342	CEP290	c.613C>T	p.Arg205Ter (p.R205X)	NM_025114.4 M	SNV	P	12 +	8
99850	CEP290	c.3175dup	p.Ile1059fs (p.I1059fs)	NM_025114.4 M	Dup	P	6 +	8
99850	CEP290	c.3175dupA	--	NM_025114.4 M	Dup	P	6 +	8
1074738	CEP290	c.4195-1G>T	--	NM_025114.4 M	SNV	P	4 +	8
217623	CEP290	c.1666dupA	--	NM_025114.4 M	Dup	P	6 +	8
217623	CEP290	c.1666dup	p.Ile556fs (p.I556fs)	NM_025114.4 M	Dup	P	6 +	8

2483 Results, 20 per Page

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